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    ACADVL acyl-CoA dehydrogenase very long chain [ Homo sapiens (human) ]

    Gene ID: 37, updated on 8-Jul-2021

    Summary

    Official Symbol
    ACADVLprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase very long chainprovided by HGNC
    Primary source
    HGNC:HGNC:92
    See related
    Ensembl:ENSG00000072778 MIM:609575
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACAD6; LCACD; VLCAD
    Summary
    The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACADVL in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7217125..7225266)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7120444..7128585)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene microRNA 324 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene PHD finger protein 23

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyl-CoA dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables fatty-acyl-CoA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables long-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-long-chain-acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables very-long-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    very long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    acyl-Coenzyme A dehydrogenase, very long chain
    NP_000009.1
    NP_001029031.1
    NP_001257376.1
    NP_001257377.1
    XP_006721579.2
    XP_011522131.1
    XP_011522132.1
    XP_024306509.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007975.1 RefSeqGene

      Range
      5105..10433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000018.4NP_000009.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      BC000399
      Consensus CDS
      CCDS11090.1
      UniProtKB/Swiss-Prot
      P49748
      Related
      ENSP00000349297.5, ENST00000356839.10
      Conserved Domains (1) summary
      cd01161
      Location:72481
      VLCAD; Very long chain acyl-CoA dehydrogenase
    2. NM_001033859.3NP_001029031.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001029031.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC020218, BP387474
      Consensus CDS
      CCDS42249.1
      UniProtKB/Swiss-Prot
      P49748
      Related
      ENSP00000344152.5, ENST00000350303.9
      Conserved Domains (2) summary
      cd01161
      Location:50459
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:80451
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    3. NM_001270447.2NP_001257376.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC120057, AK293549, BC000399, BP387474
      Consensus CDS
      CCDS58509.1
      UniProtKB/Swiss-Prot
      P49748
      Related
      ENSP00000438689.2, ENST00000543245.6
      Conserved Domains (2) summary
      cd01161
      Location:95504
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:125496
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    4. NM_001270448.2NP_001257377.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4

      See identical proteins and their annotated locations for NP_001257377.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional segment in the 5' exon, compared to variant 1. The 5'-most supported initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, and result in an isoform (4), which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK056083, BP387474
      UniProtKB/TrEMBL
      B3KPA6
      Conserved Domains (2) summary
      cd01161
      Location:1405
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:26397
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      7217125..7225266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721516.3XP_006721579.2  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd01161
      Location:72481
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    2. XM_024450741.1XP_024306509.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

      Conserved Domains (1) summary
      cd01161
      Location:72478
      VLCAD; Very long chain acyl-CoA dehydrogenase
    3. XM_011523830.2XP_011522132.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

      Conserved Domains (2) summary
      cd01161
      Location:72478
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    4. XM_011523829.2XP_011522131.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

      Conserved Domains (2) summary
      cd01161
      Location:72478
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    RNA

    1. XR_934021.2 RNA Sequence

      Related
      ENST00000322910.9
    2. XR_934022.2 RNA Sequence

    3. XR_934023.2 RNA Sequence

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